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"NP_001157979.2:p.Tyr8422_Ile8525delinsSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713104", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000427231.7:c.25266C>A" }, "RefSeq": { "hgvs": "NM_001164507.2:c.25266C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000416578.2:p.Tyr8422Ter" }, "RefSeq": { "hgvs": "NP_001157979.2:p.Tyr8422Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825994090", "coordinates": [ { "allele": "A", "end": 25458, "referenceAllele": "C", "start": 25457 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164508.2:c.25266C>A" ], "proteinEffect": { "hgvs": "NP_001157980.2:p.Tyr8422Ter", "hgvsWellDefined": "NP_001157980.2:p.Tyr8422_Ile8525delinsSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713105", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397345.8:c.25266C>A" }, "RefSeq": { "hgvs": "NM_001164508.2:c.25266C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380505.3:p.Tyr8422Ter" }, "RefSeq": { "hgvs": "NP_001157980.2:p.Tyr8422Ter" } } } } ], "type": "nucleotide" }